Details of Disease

General Information of Disease (ID: DISTNCZ8)

Disease Name Developmental and epileptic encephalopathy, 63
Synonyms EIEE63; developmental and epileptic encephalopathy 63; epileptic encephalopathy, early infantile, 63; DEE63
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISTNCZ8: Developmental and epileptic encephalopathy, 63
Disease Identifiers
MONDO ID
MONDO_0033372
UMLS CUI
C4693810
OMIM ID
617976
MedGen ID
1646846

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPLX1 OT7UIGTP Strong Autosomal recessive [1]
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References

1 Complexins regulate a late step in Ca2+-dependent neurotransmitter release. Cell. 2001 Jan 12;104(1):71-81. doi: 10.1016/s0092-8674(01)00192-1.